Entries by CBMike

Maria’s story – Kai

When I look back over the past ten years, it sometimes feels like a blur. My life before could have been someone else’s as it has changed so much. Sometimes things happen in your life that set you on a different path, even if you had not planned or foreseen it. But I have always […]

Edwin’s Story – Rory

“Rory received his diagnoses at the end of summer 2018 at nearly 3, thanks to the wonderful genetics team at GOSH. Our story is probably very similar to yours and other SAS families, and so I will only very briefly go into it here. Rory was born with a cleft of the soft palette, this […]

Gayle’s story – Joseph and Daniel

Our SAS journey is probably no different to many other families. The only main difference to most being that we have two handsome boys with the Syndrome instead of one! They have endured various testing all followed by a succession of diagnosis. There were the hospital visits, poking, prodding and all the questions but never […]

Hanna’s story – Noah

Noah was born November 2016 and was initially diagnosed with Pierre Robin Sequence; were told at birth he had a cleft palate, a recessed lower jaw and his tongue was blocking his airway. He spent 18 days in NICU and on day 15 we were told of his diagnosis of 2q32.3q33.1 deletion. In the January […]

Lynne’s story – Matthew

Matthew was born in October 2002 he weighed a healthy 8lb 10oz. Initially he appeared to be developing normally but as he got to around 12-18 months it became apparent that certain milestones were not being met in his development  i.e. walking, talking, pincer grip, feeding, toilet training and co-ordination being amongst the areas delayed.  […]